Published in Br J Dermatol on August 01, 2004
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
The incidence of inherited porphyrias in Europe. J Inherit Metab Dis (2012) 1.10
Genetic and biochemical studies in Argentinean patients with variegate porphyria. BMC Med Genet (2008) 0.82
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. Orphanet J Rare Dis (2013) 0.78
Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands. J Inherit Metab Dis (2009) 0.76
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. Intern Med (2016) 0.75
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet (2015) 0.75
Anaesthesia for the porphyric patient. Anaesthesia (1993) 3.12
Genetic heterogeneity within Mycobacterium fortuitum complex species: genotypic criteria for identification. J Clin Microbiol (1992) 2.30
The acute porphyrias. Lancet (1997) 1.80
GB virus C/hepatitis G virus infection: a favorable prognostic factor in human immunodeficiency virus-infected patients? J Infect Dis (1998) 1.27
Purification of and kinetic studies on a cloned protoporphyrinogen oxidase from the aerobic bacterium Bacillus subtilis. Arch Biochem Biophys (1998) 0.95
Molecular characterization of erythropoietic protoporphyria in South Africa. Br J Dermatol (2008) 0.92
Antibodies against the GB virus C envelope 2 protein before liver transplantation protect against GB virus C de novo infection. Hepatology (1998) 0.90
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. Eur J Clin Invest (1986) 0.89
Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J (1993) 0.88
Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. Mol Genet Metab (2000) 0.86
How to design magneto-based total analysis systems for biomedical applications. Biosens Bioelectron (2010) 0.85
Variegate porphyria. Semin Liver Dis (1998) 0.84
Visible-light detoxification and charge generation by transition metal chloride modified titania. Chemistry (2000) 0.83
[Effect of selenium administration on various laboratory parameters in patients with acute pancreatitis]. Med Klin (Munich) (1997) 0.82
The effect of oral activated charcoal on the course of congenital erythropoietic porphyria. Br J Dermatol (1993) 0.82
Hepatoerythropoietic porphyria precipitated by viral hepatitis. Gut (1993) 0.81
Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. Mol Genet Metab (2001) 0.81
[Effect of preventive selenium administration on development of ERCP-induced acute pancreatitis]. Med Klin (Munich) (1999) 0.81
Coexistent variegate porphyria and porphyria cutanea tarda. N Engl J Med (1982) 0.80
The determination of free and protein-bound haemoglobin in plasma using a combination of HPLC and absorption spectrometry. Clin Lab (2001) 0.80
Effects of fluvastatin therapy on lipids, antioxidants, oxidation of low density lipoproteins and trace metals. Eur J Clin Pharmacol (1997) 0.80
Impact of concentrations of glycated hemoglobin, alpha-tocopherol, copper, and manganese on oxidation of low-density lipoproteins in patients with type I diabetes, type II diabetes and control subjects. Clin Chim Acta (1996) 0.79
Influence of cyanoacrylate on the efficiency of forensic PCRs. Forensic Sci Int (2001) 0.77
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family. Hum Mutat (1998) 0.77
Purification of human erythrocyte porphobilinogen deaminase. S Afr Med J (1991) 0.77
Editing of GluR2 RNA in the gerbil hippocampus after global cerebral ischemia. J Cereb Blood Flow Metab (1996) 0.77
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease. S Afr Med J (1997) 0.77
Porphyrinogenicity of etomidate and ketamine as continuous infusions. Screening in the DDC-primed rat model. Br J Anaesth (1985) 0.77
Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. Cell Mol Biol (Noisy-le-grand) (2002) 0.75
Safety of vancomycin in acute porphyria. Br J Clin Pharmacol (1990) 0.75
[Fluorescence immunoassay in clinico-chemical diagnosis]. Z Med Lab Diagn (1985) 0.75
[The determination of cortisol in plasma with a direct luminescence enzyme immunoassay]. Z Med Lab Diagn (1990) 0.75
[Cognitive structure and risk of myocardial infarct]. Z Gesamte Hyg (1990) 0.75
The clinical diagnosis, prevention and management of the hepatic porphyrias. Trop Gastroenterol (1997) 0.75
[Zinc determination in the serum and urine in children with mucoviscidosis]. Kinderarztl Prax (1984) 0.75
The H-donator specificities of peroxidase isoenzymes concerning the peroxidase-labelled enzyme immunoassay. Z Med Lab Diagn (1986) 0.75
Changes in salivary [K+], [Na+] and [K+]/[Na+] with varied test demands. Biol Psychol (1995) 0.75
Measurement procedure for glucose in serum using liquid chromatography isotope dilution--tandem mass spectrometry (LC-ID-MS/MS). Clin Lab (2014) 0.75
[Total acid phosphatase and prostate phosphatase in urological diagnosis]. Z Urol Nephrol (1975) 0.75
[Basic research in ultrasound surgery. VII. Comparative animal experiments after intestinal anastomosis by suturing, ligament gluing with Fimomed and ultrasound sealing with ligament Fimomed]. Z Exp Chir Transplant Kunstliche Organe (1987) 0.75
Prophylaxis and treatment of malaria in people with the acute porphyrias. S Afr Med J (1988) 0.75
[Determination of heat stable alkaline phosphatase]. Zentralbl Gynakol (1977) 0.75
Administration of oral activated charcoal in variegate porphyria results in a paradoxical clinical and biochemical deterioration. Br J Dermatol (2003) 0.75
A sensitive direct enzyme immunoassay for cortisol in plasma and saliva. Exp Clin Endocrinol (1984) 0.75
[Enzyme immunoassay for digoxin (solid phase ELISA) in serum and saliva]. Z Med Lab Diagn (1986) 0.75
Enhanced chemiluminescent immunoassay for aldosterone. J Biolumin Chemilumin (1990) 0.75
[Zinc serum determination by AAS--normal values and clinical results in children]. Kinderarztl Prax (1980) 0.75
[Determination of estriol in the serum of pregnant patients with a homogeneous enzyme immunoassay]. Z Med Lab Diagn (1987) 0.75
Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria. S Afr Med J (1989) 0.75
[Serum zinc in children]. Z Med Lab Diagn (1979) 0.75
Diagnosis of variegate porphyria at birth by demonstration of the R59W mutation. S Afr Med J (1997) 0.75
Acute intermittent porphyria--an underdiagnosed cause of abdominal pain. S Afr Med J (1989) 0.75
Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32. Hum Genet (1996) 0.75
A simple solid phase enzyme immunoassay for aldosterone in plasma and saliva. Exp Clin Endocrinol (1983) 0.75
[Activity of phosphatase in the blood serum in prostatic carcinoma depending on the stage of the tumor]. Z Urol Nephrol (1976) 0.75
[Influence of psychic stress on the content of copper and zinc in blood serum]. Z Gesamte Hyg (1981) 0.75
[Changes in fat and carbohydrate metabolism after administration of cholinomimetic agents in anesthetized rats]. Arch Int Pharmacodyn Ther (1970) 0.75
[Determination of horseradish peroxidase (HRP) with the substrates H2O2 and p-hydroxyphenylacetic acid (HPA) in the fluorescence enzyme immunoassay]. Z Med Lab Diagn (1984) 0.75
An improved solid-phase enzyme and luminescent immunoassay system for steroid hormones and digoxin. Clin Chem (1988) 0.75
[Zinc and copper in serum of patients in shock]. Z Med Lab Diagn (1982) 0.75
Carbamazepine and haem biosynthesis. Lancet (1983) 0.75
[The diagnostic value of the D-xylose test]. Dtsch Gesundheitsw (1966) 0.75
The expression of protoporphyrinogen oxidase in human tissues. Cell Mol Biol (Noisy-le-grand) (2009) 0.75
[Double antibody and solid phase ELISA for estradiol determination in serum]. Z Med Lab Diagn (1988) 0.75
[Historical aspects of the use of laboratory diagnostic methods in medicine]. Z Med Lab Diagn (1984) 0.75
[The significance of potassium concentration in the vitreous body for the determination of the time of death]. Z Arztl Fortbild (Jena) (1971) 0.75
Evaluation of the LIAISON thyroid chemiluminescence immunoassays. Clin Lab (2000) 0.75
[Results of the D-xylose resorption test in patients with infectious hepatitis]. Dtsch Gesundheitsw (1970) 0.75
[Manganese and arteriosclerosis]. Z Gesamte Inn Med (1986) 0.75